Orofaciodigital Syndrome I

Categories: Genetic diseases, Rare diseases, Fetal diseases, Bone diseases, Neuronal diseases, Ear diseases, Nephrological diseases, Eye diseases, Respiratory diseases, Oral diseases

Aliases & Classifications for Orofaciodigital Syndrome I

MalaCards integrated aliases for Orofaciodigital Syndrome I:

Name: Orofaciodigital Syndrome I 53 12 23 49 71 14 69
Oral-Facial-Digital Syndrome 1 49 71 36 13
Ofd1 53 23 49 71
Oral-Facial-Digital Syndrome, Type I 53 71 51
Orofaciodigital Syndrome 1 12 49 71
Papillon-Leage and Psaume Syndrome 53 71
Orofaciodigital Syndromes 41 69
Ofds I 53 71
Oral-Facial-Digital Syndrome Type I 23
Oral Facial Digital Syndrome Type 1 49
Oral-Facial-Digital Syndrome Type 1 49
Orofaciodigital Syndrome Type I 12
Orofaciodigital Syndrome Type 1 69
Papillon-Leage-Psaume Syndrome 12
Oral Facial Digital Syndrome 1 49
Ofd Syndrome 1 49
Ofds 1 49



x-linked dominant

lethal in males


orofaciodigital syndrome i:
Onset and clinical course congenital onset
Inheritance x-linked dominant inheritance


Penetrance Ofd1 appears to be highly penetrant, although highly variable in expression. in some reports, renal cysts are the only apparent manifestation in affected females [mclaughlin et al 2000]...


Summaries for Orofaciodigital Syndrome I

NIH Rare Diseases : 49 Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease. Last updated: 11/17/2010

MalaCards based summary : Orofaciodigital Syndrome I, also known as oral-facial-digital syndrome 1, is related to orofaciodigital syndrome and ciliopathy, and has symptoms including ataxia, seizures and tremor. An important gene associated with Orofaciodigital Syndrome I is OFD1 (OFD1, Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drugs Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, tongue and liver, and related phenotypes are craniofacial and digestive/alimentary

OMIM : 53 Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males (Ferrante et al., 2001). Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I. Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010). (311200)

UniProtKB/Swiss-Prot : 71 Orofaciodigital syndrome 1: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy- Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys.

Disease Ontology : 12 An orofaciodigital syndrome characterized by polycystic kidney disease and variable involvement of the central nervous system and has material basis in X-linked inheritance of the OFD1 gene.

Wikipedia : 72 Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked... more...

GeneReviews: NBK1188

Related Diseases for Orofaciodigital Syndrome I

Graphical network of the top 20 diseases related to Orofaciodigital Syndrome I:

Diseases related to Orofaciodigital Syndrome I

Symptoms & Phenotypes for Orofaciodigital Syndrome I

Symptoms via clinical synopsis from OMIM:

Neurologic Central Nervous System:
hypothalamic hamartoma
arachnoid cysts
Head And Neck Ears:
low-set ears
hearing loss

Skeletal Hands:
abnormalities of the fingers (45%)
polydactyly, preaxial or postaxial (rare)
Growth Height:
short stature

Abdomen Liver:
hepatic fibrosis
fibrocystic liver (45%)
dilatation and beading of the intrahepatic bile ducts

Head And Neck Nose:
broad nasal bridge
hypoplastic alar cartilage

Genitourinary Internal Genitalia Female:
ovarian cysts

Abdomen Pancreas:
pancreatic cysts (29%)

Skeletal Feet:
polydactyly, preaxial or postaxial (rare)
abnormalities of the toes (25%)
duplication of the hallux

Neurologic Behavioral Psychiatric Manifestations:
major depression (rare)

Head And Neck Eyes:
downslanting palpebral fissures

Head And Neck Face:
frontal bossing
facial asymmetry
hypoplasia of the malar bones

Head And Neck Head:

Head And Neck Mouth:
cleft palate
high-arched palate
thickened alveolar ridges
hyperplastic oral frenuli
buccal frenuli
Skin Nails Hair Hair:
dry, rough, sparse hair

Head And Neck Teeth:
enamel hypoplasia
supernumerary teeth
dental caries
missing teeth
anomalous anterior teeth

Cardiovascular Heart:
cardiac anomalies

Genitourinary Kidneys:
adult onset polycystic kidney (50%)

Skin Nails Hair Skin:
milia of upper face and ears (infancy)
dry scalp

Laboratory Abnormalities:
abnormal liver enzymes in those with hepatic cysts or fibrosis
proteinuria in those with cystic kidneys

Clinical features from OMIM:


Human phenotypes related to Orofaciodigital Syndrome I:

31 (show top 50) (show all 86)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 frequent (33%) HP:0001251
2 seizures 31 frequent (33%) HP:0001250
3 tremor 31 occasional (7.5%) HP:0001337
4 dystonia 31 occasional (7.5%) HP:0001332
5 dry skin 31 occasional (7.5%) HP:0000958
6 hypertelorism 31 hallmark (90%) HP:0000316
7 low-set ears 31 HP:0000369
8 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
9 frontal bossing 31 hallmark (90%) HP:0002007
10 finger syndactyly 31 frequent (33%) HP:0006101
11 clinodactyly 31 HP:0030084
12 high palate 31 hallmark (90%) HP:0000218
13 hydrocephalus 31 HP:0000238
14 hypertension 31 occasional (7.5%) HP:0000822
15 intellectual disability 31 frequent (33%) HP:0001249
16 hearing impairment 31 occasional (7.5%) HP:0000365
17 chronic otitis media 31 occasional (7.5%) HP:0000389
18 open bite 31 occasional (7.5%) HP:0010807
19 wide nasal bridge 31 hallmark (90%) HP:0000431
20 carious teeth 31 HP:0000670
21 microcephaly 31 HP:0000252
22 coarse hair 31 occasional (7.5%) HP:0002208
23 short stature 31 HP:0004322
24 renal insufficiency 31 occasional (7.5%) HP:0000083
25 proteinuria 31 occasional (7.5%) HP:0000093
26 cleft palate 31 frequent (33%) HP:0000175
27 micrognathia 31 occasional (7.5%) HP:0000347
28 cone-shaped epiphysis 31 frequent (33%) HP:0010579
29 broad alveolar ridges 31 hallmark (90%) HP:0000187
30 epicanthus 31 occasional (7.5%) HP:0000286
31 reduced bone mineral density 31 frequent (33%) HP:0004349
32 elevated hepatic transaminases 31 occasional (7.5%) HP:0002910
33 hepatic fibrosis 31 HP:0001395
34 alopecia 31 occasional (7.5%) HP:0001596
35 short toe 31 frequent (33%) HP:0001831
36 exocrine pancreatic insufficiency 31 occasional (7.5%) HP:0001738
37 underdeveloped nasal alae 31 frequent (33%) HP:0000430
38 telecanthus 31 occasional (7.5%) HP:0000506
39 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
40 multicystic kidney dysplasia 31 occasional (7.5%) HP:0000003
41 polycystic kidney dysplasia 31 HP:0000113
42 pancreatic cysts 31 very rare (1%) HP:0001737
43 hepatic cysts 31 HP:0001407
44 downslanted palpebral fissures 31 frequent (33%) HP:0000494
45 increased number of teeth 31 HP:0011069
46 brachydactyly 31 occasional (7.5%) HP:0001156
47 abnormality of dental enamel 31 occasional (7.5%) HP:0000682
48 choanal atresia 31 occasional (7.5%) HP:0000453
49 foot polydactyly 31 frequent (33%) HP:0001829
50 odontogenic neoplasm 31 occasional (7.5%) HP:0100612

UMLS symptoms related to Orofaciodigital Syndrome I:


MGI Mouse Phenotypes related to Orofaciodigital Syndrome I:

# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 CEP290 CLPS IFT88 OFD1 TMEM107
2 digestive/alimentary MP:0005381 9.46 CLPS IFT88 OFD1 TMEM107
3 renal/urinary system MP:0005367 9.26 CEP290 IFT88 OFD1 TMEM107
4 vision/eye MP:0005391 8.92 TMEM107 CEP290 IFT88 RPGR

Drugs & Therapeutics for Orofaciodigital Syndrome I

Drugs for Orofaciodigital Syndrome I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
Menthol Approved 2216-51-5 16666
2 Liver Extracts

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
2 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Orofaciodigital Syndrome I

Cochrane evidence based reviews: orofaciodigital syndromes

Genetic Tests for Orofaciodigital Syndrome I

Anatomical Context for Orofaciodigital Syndrome I

MalaCards organs/tissues related to Orofaciodigital Syndrome I:

Kidney, Tongue, Liver, Brain, Pancreas, Bone, Cerebellum

Publications for Orofaciodigital Syndrome I

Articles related to Orofaciodigital Syndrome I:

# Title Authors Year
Orofaciodigital syndrome I: a case report. ( 9151628 )
Orofaciodigital syndrome I (OFD I). ( 5173222 )

Variations for Orofaciodigital Syndrome I

UniProtKB/Swiss-Prot genetic disease variations for Orofaciodigital Syndrome I:

# Symbol AA change Variation ID SNP ID
1 OFD1 p.Ser435Arg VAR_013754 rs122460150
2 OFD1 p.Ser74Phe VAR_015574 rs312262812
3 OFD1 p.Ala79Thr VAR_030789 rs312262814
4 OFD1 p.Gly138Ser VAR_058758 rs312262827
5 OFD1 p.Met141Arg VAR_069100 rs886039860

ClinVar genetic disease variations for Orofaciodigital Syndrome I:

6 (show top 50) (show all 119)
# Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg) single nucleotide variant Pathogenic rs122460150 GRCh37 Chromosome X, 13774778: 13774778
2 OFD1 NM_003611.2(OFD1): c.312delG (p.Val105Tyrfs) deletion Pathogenic rs312262822 GRCh37 Chromosome X, 13754797: 13754797
3 OFD1 OFD1, 19-BP DEL, NT294 deletion Pathogenic
4 OFD1 NM_003611.2(OFD1): c.413-10T> G single nucleotide variant Pathogenic rs312262833 GRCh37 Chromosome X, 13762524: 13762524
5 OFD1 NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs) insertion Pathogenic rs312262886 GRCh37 Chromosome X, 13778466: 13778467
6 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh37 Chromosome X, 13778702: 13778705
7 OFD1 NM_003611.2(OFD1): c.688_705del18 (p.Ile230_Lys235del) deletion Pathogenic rs398122866 GRCh37 Chromosome X, 13764932: 13764949
8 OFD1 NM_003611.2(OFD1): c.1221+1delG deletion Pathogenic rs312262870 GRCh38 Chromosome X, 13755243: 13755243
9 OFD1 NM_003611.2(OFD1): c.(?_-360)_828+?del deletion Pathogenic GRCh37 Chromosome X, 13752831: 13765072
10 OFD1 NM_003611.2(OFD1): c.(?_-311)_1542+?del deletion Pathogenic GRCh37 Chromosome X, 13752832: 13775909
11 OFD1 NM_003611.2: c.1051-2> G single nucleotide variant Pathogenic
12 OFD1 NM_003611.2(OFD1): c.1056-2A> T single nucleotide variant Pathogenic rs312262861 GRCh37 Chromosome X, 13771485: 13771485
13 OFD1 NM_003611.2: c.1056C> G single nucleotide variant Pathogenic
14 OFD1 NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) indel Pathogenic rs312262862 GRCh37 Chromosome X, 13771502: 13771509
15 OFD1 NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs312262863 GRCh37 Chromosome X, 13771530: 13771530
16 OFD1 NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln) single nucleotide variant Pathogenic rs312262864 GRCh37 Chromosome X, 13771531: 13771531
17 OFD1 NM_003611.2(OFD1): c.111+2T> C single nucleotide variant Pathogenic rs312262809 GRCh37 Chromosome X, 13753467: 13753467
18 OFD1 NM_003611.2(OFD1): c.1222-?_(*_?)del deletion Pathogenic
19 OFD1 NM_003611.2(OFD1): c.111G> A (p.Lys37=) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
20 OFD1 NM_003611.2(OFD1): c.111G> C (p.Lys37Asn) single nucleotide variant Pathogenic rs312262808 GRCh37 Chromosome X, 13753465: 13753465
21 OFD1 NM_003611.2(OFD1): c.1130-22_1130-19delAATT deletion Pathogenic rs312262865 GRCh37 Chromosome X, 13773248: 13773251
22 OFD1 NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs) duplication Pathogenic rs312262866 GRCh37 Chromosome X, 13773318: 13773318
23 OFD1 NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs) deletion Pathogenic rs312262867 GRCh37 Chromosome X, 13773325: 13773325
24 OFD1 NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs) deletion Pathogenic rs312262868 GRCh37 Chromosome X, 13773333: 13773336
25 OFD1 NM_003611.2(OFD1): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic rs312262810 GRCh37 Chromosome X, 13754606: 13754606
26 OFD1 NM_003611.2(OFD1): c.1220_1221+1delAGG deletion Pathogenic rs312262869 GRCh37 Chromosome X, 13773360: 13773362
27 OFD1 NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs) deletion Pathogenic rs312262871 GRCh37 Chromosome X, 13774743: 13774747
28 OFD1 NM_003611.2(OFD1): c.1318delC (p.Leu440Terfs) deletion Pathogenic rs312262872 GRCh37 Chromosome X, 13774793: 13774793
29 OFD1 NM_003611.2(OFD1): c.1319delT (p.Leu440Glnfs) deletion Pathogenic rs312262873 GRCh37 Chromosome X, 13774794: 13774794
30 OFD1 NM_003611.2(OFD1): c.1322_1326delAAGAA (p.Lys441Argfs) deletion Pathogenic rs312262874 GRCh37 Chromosome X, 13774797: 13774801
31 OFD1 NM_003611.2(OFD1): c.1323_1326delAGAA (p.Glu442Argfs) deletion Pathogenic rs312262875 GRCh37 Chromosome X, 13774798: 13774801
32 OFD1 NM_003611.2(OFD1): c.1334_1335delTG (p.Leu445Argfs) deletion Pathogenic rs312262876 GRCh37 Chromosome X, 13774809: 13774810
33 OFD1 NM_003611.2(OFD1): c.1358T> A (p.Leu453Ter) single nucleotide variant Pathogenic rs312262877 GRCh37 Chromosome X, 13774833: 13774833
34 OFD1 NM_003611.2(OFD1): c.1360_1363delCTTA (p.Leu454Asnfs) deletion Pathogenic rs312262878 GRCh37 Chromosome X, 13774835: 13774838
35 OFD1 NM_003611.2(OFD1): c.1409delA (p.Asn470Thrfs) deletion Pathogenic rs312262879 GRCh37 Chromosome X, 13774884: 13774884
36 OFD1 NM_003611.2(OFD1): c.1420C> T (p.Gln474Ter) single nucleotide variant Pathogenic rs312262880 GRCh37 Chromosome X, 13775787: 13775787
37 OFD1 NM_003611.2(OFD1): c.1445_1446delTT (p.Phe482Serfs) deletion Pathogenic rs312262881 GRCh37 Chromosome X, 13775812: 13775813
38 OFD1 NM_003611.2(OFD1): c.1452_1458delAGAACTA (p.Lys484Asnfs) deletion Pathogenic rs312262882 GRCh37 Chromosome X, 13775819: 13775825
39 OFD1 NM_003611.2(OFD1): c.1587delA (p.Ala530Leufs) deletion Pathogenic rs312262883 GRCh37 Chromosome X, 13776500: 13776500
40 OFD1 NM_003611.2(OFD1): c.162_166delTGGAG (p.Ser54Argfs) deletion Pathogenic rs312262811 GRCh37 Chromosome X, 13754647: 13754651
41 OFD1 NM_003611.2(OFD1): c.1757delG (p.Ser586Metfs) deletion Pathogenic rs312262884 GRCh37 Chromosome X, 13778336: 13778336
42 OFD1 NM_003611.2(OFD1): c.1821delG (p.Ile608Serfs) deletion Pathogenic rs312262885 GRCh37 Chromosome X, 13778400: 13778400
43 OFD1 NM_003611.2(OFD1): c.1979_1980delCT (p.Ser660Cysfs) deletion Pathogenic rs312262887 GRCh37 Chromosome X, 13778558: 13778559
44 OFD1 NM_003611.2(OFD1): c.2044dupA (p.Ile682Asnfs) duplication Pathogenic rs312262888 GRCh37 Chromosome X, 13778623: 13778623
45 OFD1 NM_003611.2(OFD1): c.2056delT (p.Ser686Profs) deletion Pathogenic rs312262889 GRCh37 Chromosome X, 13778635: 13778635
46 OFD1 NM_003611.2(OFD1): c.2176delC (p.Arg726Alafs) deletion Pathogenic rs312262891 GRCh37 Chromosome X, 13778755: 13778755
47 OFD1 NM_003611.2(OFD1): c.221C> T (p.Ser74Phe) single nucleotide variant Pathogenic rs312262812 GRCh37 Chromosome X, 13754706: 13754706
48 OFD1 NM_003611.2(OFD1): c.224A> C (p.Asn75Thr) single nucleotide variant Pathogenic rs312262813 GRCh37 Chromosome X, 13754709: 13754709
49 OFD1 NM_003611.2(OFD1): c.2261-1G> T single nucleotide variant Pathogenic rs312262892 GRCh37 Chromosome X, 13779203: 13779203
50 OFD1 NM_003611.2(OFD1): c.2261-?_2387+?del deletion Pathogenic GRCh37 Chromosome X, 13779204: 13779330

Expression for Orofaciodigital Syndrome I

Search GEO for disease gene expression data for Orofaciodigital Syndrome I.

Pathways for Orofaciodigital Syndrome I

Pathways related to Orofaciodigital Syndrome I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
11.53 CEP290 IFT88 OFD1

GO Terms for Orofaciodigital Syndrome I

Cellular components related to Orofaciodigital Syndrome I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.76 CEP290 IFT88 OFD1 RPGR
2 centrosome GO:0005813 9.65 CEP290 OFD1 RPGR
3 microtubule organizing center GO:0005815 9.61 CEP290 OFD1 RPGR
4 cell projection GO:0042995 9.55 CEP290 IFT88 OFD1 RPGR TMEM107
5 centriole GO:0005814 9.43 CEP290 IFT88 OFD1
6 ciliary transition zone GO:0035869 9.4 CEP290 TMEM107
7 centriolar satellite GO:0034451 9.37 CEP290 OFD1
8 MKS complex GO:0036038 9.32 CEP290 TMEM107
9 ciliary basal body GO:0036064 9.26 CEP290 IFT88 OFD1 RPGR
10 cilium GO:0005929 9.02 CEP290 IFT88 OFD1 RPGR TMEM107

Biological processes related to Orofaciodigital Syndrome I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.35 CEP290 IFT88 OFD1 RPGR TMEM107
2 G2/M transition of mitotic cell cycle GO:0000086 9.32 CEP290 OFD1
3 ciliary basal body-plasma membrane docking GO:0097711 9.26 CEP290 OFD1
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 CEP290 OFD1
5 cell projection organization GO:0030030 9.02 CEP290 IFT88 OFD1 RPGR TMEM107

Sources for Orofaciodigital Syndrome I

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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